Luminesce Alliance Functional Genomics Platform is supporting discovery to improve Grace's function.

Grace is a fun-loving, kind and inquisitive eight-year-old girl. She loves to play restaurants with her friends Eliana and Samantha, go to school, and pet her labradoodle Tully. Her smile lights up the room.

Grace lives with ADCY5 related movement disorder syndrome, an ultra-rare genetic condition caused by a mutation in the ADCY5 gene.

Fewer than one in every million children has this condition. It causes her to have multiple episodes of abnormal movements called ‘dystonic movement storms’ that are triggered when she gets sick, tired, anxious, stressed or frustrated.
The episodes can be life threatening. If the abnormal movements can’t be stopped, Grace could experience respiratory failure or cardiovascular collapse. During a dystonic storm, her body is in a hyper metabolic state that can lead to muscle breakdown.

Managing all this impacts the whole family. During the episodes, Grace needs to be physically managed by two people, she may need to be hospitalised, and she becomes exhausted mentally and physically.

The disorder also means Grace can’t sit, stand or walk by herself, and it also significantly affects her speech.

‘It’s just really challenging for her. She is so mad and sad with her body,’ says her mother, Emma, a former nurse.

The family first noticed something wasn’t quite right when Grace was four months old. They eventually got a diagnosis when she was 3 ½.

‘We were so relieved to finally have some answers and to find out our daughter had a normal life expectancy and intelligence, but because the condition is so rare, the treatment path is unclear,’ says Emma.

This the family – Dad Adam and older brothers William and Ollie – have raised $140,000 to fund a PhD student to join A/Prof Wendy Gold’s team and work on ADCY5 full time.

‘Having the Functional Genomics Enabling Platform there to support discovery is really important,’ says A/Prof Gold.

‘It’s got every capability that we need – all the infrastructure that’s required and the expertise with leading researchers who are able to actually deliver.’

Emma says the family wouldn’t change Grace for the world because of the beautiful little girl she is, but it would be wonderful to improve her function and the disabling impact these movement episodes have on her body and functionality.

Grace’s dream is to one day walk Tully, says Emma.

A/Prof Gold says the research would not have happened without the Luminesce Alliance Functional Genomics Enabling Platform and the initial Luminesce Alliance-funding.

‘It’s hard for families to fund research support for their rare disease. Because of the increased accessibility afforded to me by the Luminesce Alliance Functional Genomics Enabling Platform, it is so rewarding for me to now be able to say to families that yes, I can do this research for you,’ she says.

• Hear Wendy and Emma share their perspectives at Luminesce Alliance Conference: 1 1 3 Perspectives from Family Members – YouTube
• Find out more about the critical impact of research for children like Grace and their families, and to hear and read interviews with A/Prof Wendy Gold and Emma Maly, visit Luminesce Alliance Functional Genomics current research pipeline.